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  • Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency
    Felgentreff, Kerstin ...
    Hypomorphic mutations in genes associated with severe combined immunodeficiency (SCID) or Omenn syndrome can also cause milder immunodeficiencies. We report 10 new patients with such "atypical" SCID ... and summarize 63 patients from the literature. The patient groups with T(low)B(low) (n=28), T(low)B(+) (n=16) and ADA (n=29) SCID variants had similar infection profiles but differed in the frequency of immune dysregulation, which was observed predominantly in patients with recombinationdefects. Most immunological parameters were remarkably similar inthe three groups. Of note, 19/68 patients with "atypical" SCID had normal T cell counts, 48/68 had normal IgG and 23/46 had at least one normal specific antibody titer. Elevated IgE was a characteristic feature of ADA deficiency. This overview characterizes "atypical" SCID as a distinct disease with immune dysregulation in addition to infection susceptibility. Lymphopenia, reduced naive T cells and elevated IgE are suggestive, but not consistent features of the disease.
    Vir: Clinical immunology. - ISSN 1521-6616 (Vol. 141, issue 1, 2011, str. 73-82)
    Vrsta gradiva - članek, sestavni del
    Leto - 2011
    Jezik - angleški
    COBISS.SI-ID - 28966873
    DOI

vir: Clinical immunology. - ISSN 1521-6616 (Vol. 141, issue 1, 2011, str. 73-82)
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